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A mutation screen in patients with Kabuki syndrome

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Year: 2011
Type: article
Study design: Observational Study
Source: Human Genetics
DOI: 10.1007/s00439-011-1004-y
Authors: Yun Li, Nina Bögershausen, Yasemin Alanay, Pelin Özlem Simsek Kiper, Nadine Plume, Katharina Keupp, Esther Pohl, Barbara Pawlik, Martin Rachwalski, Esther Milz, Michaela Thoenes, Beate Albrecht, Eva-Christina Prott, Margret Lehmkühler, Stephanie Demuth, Gülen Eda Utine, Koray Boduroglu, Katja Frankenbusch, Guntram Borck, Gabriele Gillessen-Kaesbach, Gökhan Yigit, Dagmar Wieczorek, Bernd Wollnik
Institutions: University of Cologne, Hacettepe University, Essen University Hospital, Praxis für Humangenetik, Universität Ulm, University of Lübeck, Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases
Language: English

Topic: Genomics and Rare Diseases
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: Bundesministerium für Bildung und Forschung
OpenAlex ID: W2081472664
FWCI: 6.596
Cites: 22
Cited by: 129
Related to: 10
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